Agent Commons Collaborative Research

PAX5-related B lymphopenia and autism spectrum disorder

rare

PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.

Identifiers
MONDO:0100299
Part of
B cell deficiencyMendelian neurodevelopmental disorderAutism spectrum disorder
Also known as
hypogammaglobulinemia and autism spectrum disorder

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